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Participate in research

In rare conditions like Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3), every participant makes a difference. Treatments take time – and research is how we get there. By joining a study, you’re helping to answer some of the biggest questions about these disorders and paving the way for better care, better tools, and eventually, better treatments. Researchers can’t do it without you.

What does research participation look like?

Participating in research can take many forms, depending on the type of study. Our research participation guide gives an overview of how to find and enroll in a study and what happens after you participate.

View guide

Join a registry or natural history study

These studies collect information over time—often through surveys, interviews, or developmental assessments—to help researchers understand how ASXL-related disorders progress. They’re essential for developing future treatments and designing clinical trials.

Contribute a biological sample

Blood or other tissue samples can be used to study ASXL biology, test potential therapies, or identify measurable signs of treatment response. Samples may be collected during a routine medical visit or at the ASXL Family Conference.

Share your experiences

Surveys and interviews help researchers understand daily life with an ASXL-related disorder—what’s hard, what helps, and what families need most.

Research Studies

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Currently enrolling

ASXL-Related Disorders Natural History Study and Biobank

The ASXL-Related Disorders Natural History Study and Biobank is a research initiative that collects clinical data and biological samples to improve understanding, advance care, and support future treatments for ASXL-related disorders. This study is funded by the ARRE Foundation and is a collaborative hub for several other studies.

Enrollment Complete

Family Research Engagement Survey: Understanding ASXL Family Barriers and Motivations to Participating in Research

In rare disease communities like ours, every response matters. This survey gives ASXL families the chance to share their perspectives on research – what motivates or discourages participation, and how you prefer to be contacted – so that future studies are meaningful and accessible. Your input will directly guide the ARRE Foundation’s efforts to support families and researchers in working together to advance ASXL research. Deadline: Wed. October 15

Currently enrolling

ASXL Behavioral Phenotyping Study (ALPS)

The ASXL Behavioral Phenotyping Study (ALPS) is a research study led by Dr. Natasha Ludwig (Kennedy Krieger Institute) exploring cognition, communication, and behavior in individuals with ASXL-related disorders. Participation involves completing online surveys and is open to participants worldwide in English and in Spanish. This study is funded by the ARRE Foundation.

Currently enrolling

CHAMPION Study (Motor Development in Chromatinopathies)

Led by Dr. Rujuta Wilson at UCLA, this study focuses on children ages 1–5 with ASXL-related disorders or other chromatinopathies. It aims to develop better ways to assess motor delays and track neurodevelopmental progress. Participation includes in-person or virtual assessments and is available at UCLA, the ASXL Family Conference, or online.

Currently enrolling

Natural History Study for Bainbridge-Ropers Syndrome (ASXL3)

Dr. Meena Balasubramanian and Dr. Emily Woods (University of Sheffield) are leading a long-term study to better understand how ASXL3-related symptoms change over time. Families will attend one clinic visit per year (virtual or in-person) and complete annual questionnaires, with the option to donate a blood or skin sample.

Currently enrolling

Simons Searchlight ASXL3 Registry

Simons Searchlight is collecting detailed data from families affected by ASXL3-related disorders. Participants complete an initial survey, with opportunities to contribute follow-up information in future years. This registry helps researchers identify trends and prepare for future studies.

Enrollment Complete

ASXL Kidney and Bladder Health Survey

This study led by a researcher at Washington University at St. Louis collected data through a short electronic survey to better understand kidney and bladder health in individuals with ASXL-related disorders. Data is not yet published from this survey.

Enrollment Complete

Bohring-Opitz Syndrome EEG Study

Researchers at UCLA investigated whether individuals with Bohring-Opitz Syndrome have a unique brainwave pattern that could serve as a future biomarker to help measure treatment effects. Preliminary findings are available from this study with additional publications anticipated.

Enrollment Complete

Inchstone Project Survey

This project gathered input from families and clinicians to develop better assessment tools that capture the small but meaningful developmental gains made by individuals with severe disabilities. Initial findings are available from this study with additional publications anticipated.

Enrollment Complete

Bainbridge-Ropers Syndrome Natural History Study

This study, led by researchers at the University of Newcastle, examined the symptoms of individuals with Bainbridge-Ropers Syndrome and their impact on both patients and caregivers to help guide future clinical care. Data is not yet published from this study.

Enrollment Complete

Shashi-Pena Syndrome (ASXL2) Data Collection

Researchers at Duke University and Cincinnati Children’s collected medical and developmental data on individuals with Shashi-Pena Syndrome to better characterize the condition. Data from this effort is published in GeneReviews.

Enrollment Complete

ASXL Puberty Survey

This UCLA-led study explored how puberty affects individuals with ASXL syndromes using parent-reported surveys and optional medical record sharing to examine developmental changes. Data from this survey is published and initial findings are explained in a recorded webinar hosted by the ARRE Foundation.